Pleiotropy in eye disease and related traits

Abstract Pleiotropy plays an important role in furthering our understanding of human biology and disease. Results from genome-wide association studies (GWASs) indicate that pleiotropy is widespread in the human genome. The characterization of these pleiotropic mechanisms not only helps explain the shared genetic architecture among different diseases and traits, but also contributes to novel insights in ophthalmic genetics. In this chapter, we focus on GWAS results to illustrate the interesting phenomenon of pleiotropy, provide examples in eye-related diseases and traits, and explain their implications for genomic medicine. A greater understanding of pleiotropy inevitably contributes to advances in precision medicine.